All transcript variants in gene AGAP5

Information The variants shown are described using the NM_001144000.1 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-6C>T r.(=) p.(=) g.75457519G>A Copied from the Exome Variant Server AGAP5_000012 45/4564 44/3180 1/1384
?/? c.36C>T r.(=) p.(=) g.75457478G>A Copied from the Exome Variant Server AGAP5_000011 1/4566 1/3182 0/1384
?/? c.45C>T r.(=) p.(=) g.75457469G>A Copied from the Exome Variant Server AGAP5_000010 1/4566 0/3182 1/1384
?/? c.129G>A r.(=) p.(=) g.75457385C>T Copied from the Exome Variant Server AGAP5_000008 1/4566 0/3182 1/1384
?/? c.147G>A r.(=) p.(=) g.75457367C>T Copied from the Exome Variant Server AGAP5_000006 2/4566 0/3182 2/1384
?/? c.180G>A r.(=) p.(=) g.75457334C>T Copied from the Exome Variant Server AGAP5_000004 1/4566 0/3182 1/1384
?/? c.223+1G>A r.spl? p.? g.75457290C>T Copied from the Exome Variant Server AGAP5_000002 1/4566 1/3182 0/1384
?/? c.223+31G>A r.(=) p.(=) g.75457260C>T Copied from the Exome Variant Server AGAP5_000001 3/4566 2/3182 1/1384
?/? c.223+43G>A r.(=) p.(=) g.75457248C>T Copied from the Exome Variant Server AGAP5_000009 2/4566 0/3182 2/1384
?/? c.586-14_586-12del r.(=) p.(=) g.75435844_75435846del Copied from the Exome Variant Server AGAP5_000007 3/3580 3/2674 0/906
?/? c.1696_1697insT r.(?) p.(Trp566Leufs*7) g.75434721_75434722insA Copied from the Exome Variant Server AGAP5_000005 1/6418 0/4178 1/2240
?/? c.1903G>A r.(?) p.(Gly635Arg) g.75434515C>T Copied from the Exome Variant Server AGAP5_000003 21/4542 0/3158 21/1384
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